Treatable Disorders Often Misdiagnosed As Creutzfeldt-Jakob

Patients with Alzheimer's, vascular dementia most frequently misdiagnosed with CJD

FRIDAY, Sept. 16 (HealthDay News) -- Patients with potentially treatable disorders may be misdiagnosed with Creutzfeldt-Jakob disease (CJD), according to a study published in the September issue of the Annals of Neurology.

Numthip Chitravas, M.D., from the University Hospitals Case Medical Center in Cleveland, and colleagues investigated which treatable disorders are most commonly mistaken for CJD by reviewing the prion-negative autopsy brain database at the U.S. National Prion Disease Pathology Surveillance Center at Case Western Reserve University from 2006 through 2009. A total of 1,106 brain autopsies were analyzed.

The investigators identified 352 cases (32 percent) that were negative for prion disease, of which 304 had adequate tissue for histopathological analysis. Alzheimer's disease and vascular dementia were the most frequently misdiagnosed disorders, found in 154 and 36 patients, respectively. Potentially treatable diseases were observed in 71 patients. Clinical findings included dementia (42 cases); pyramidal (20), cerebellar (14), or extrapyramidal (12) signs; myoclonus (12); visual disturbance (nine); and akinetic mutism (five). A typical electroencephalogram was observed in only one case. Neuropathological diagnoses were found to include immune-mediated disorders, neoplasia, infections, and metabolic disorders in 26, 25, 14, and six cases, respectively.

"Our findings indicate that heightened awareness of CJD has led to a tendency to over diagnose this condition, and that many of these misdiagnosed patients suffer from potentially treatable diseases," the authors write.